nsv2781974
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Publication(s):Redin et al. 2016
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 137 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 25 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 29,658,319 | 29,658,319 | - |
nsv2781974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 29,658,333 | 29,658,333 | + |
nsv2781974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 65,780,232 | 65,780,232 | + |
nsv2781974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 65,780,237 | 65,780,237 | - |
nsv2781974 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 29,658,426 | 29,658,426 | - | ||
nsv2781974 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 29,658,440 | 29,658,440 | + | ||
nsv2781974 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 67,539,990 | 67,539,990 | + | ||
nsv2781974 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 67,539,995 | 67,539,995 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13659830 | interchromosomal translocation | DGAP126 | Sequencing | Split read mapping | SCV000320776 | nssv13659837 |
nssv13659837 | interchromosomal translocation | DGAP126 | Sequencing | Split read mapping | SCV000320776 | nssv13659830 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13659830 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 29,658,319 | 29,658,319 | - |
nssv13659837 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 29,658,333 | 29,658,333 | + |
nssv13659830 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 65,780,232 | 65,780,232 | + |
nssv13659837 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 65,780,237 | 65,780,237 | - |
nssv13659830 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 29,658,426 | 29,658,426 | - | ||
nssv13659837 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 29,658,440 | 29,658,440 | + | ||
nssv13659830 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 67,539,990 | 67,539,990 | + | ||
nssv13659837 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 67,539,995 | 67,539,995 | - |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Sample ID | Type | Clinical Interpretation | ClinVar ID | Gender | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13659830 | DGAP126 | interchromosomal translocation | SCV000320776 | Female | nssv13659837 | |
nssv13659837 | DGAP126 | interchromosomal translocation | SCV000320776 | Female | nssv13659830 |